Stephan Züchner

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Stephan Züchner, Irina Mersiyanova, M. Muglia et al. · Nature Genetics · 2004 · 1.5K citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Mitochondrial Function +9

dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway

Jeannette M. Osterloh, Jing Yang, Timothy M. Rooney et al. · Science · 2012 · 706 citations · Full text

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

Ian R. Mackenzie, Alexandra M. Nicholson, Mohona Sarkar et al. · Neuron · 2017 · 635 citations · Full text

Amyotrophic Lateral Sclerosis, Dementia, Frontotemporal Dementia +8

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese, Roberto Simone, Roisin Sullivan et al. · Nature Genetics · 2019 · 564 citations · Full text

Biallelic Expansion, Neurological Disorder, Genetic Disorder +5

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán et al. · Human Mutation · 2015 · 468 citations · Full text

Genetics, Genetic Epidemiology, Databases +21